Associated Papers
Case report: Genetic analysis of a novel intronic inversion variant in the SPTB gene associated with hereditary spherocytosis.
Xi B et al.
Frontiers in Genetics, 2023
38111681 (PubMed )
Supplement: Table1.pdf
Case report: Prenatal diagnosis of fetal non-compaction cardiomyopathy with bradycardia accompanied by de novo CALM2 mutation.
Zhang W et al.
Frontiers in Pediatrics, 2022
36507129 (PubMed )
Supplement: Table1.xlsx › Supplemental_Table
Geographic prevalence variation and phenotype penetrance in porphyria: insights from a Chinese population database.
Li P et al.
Blood Advances, 2021
33570620 (PubMed )
Supplement: advancesadv2020003150-suppl1.pdf
Identification of FECH gene multiple variations in two Chinese patients with erythropoietic protoporphyria and a review.
Long ZB et al.
Journal of Zhejiang University. Science. B, 0
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